Published: 18 Jun 2025

ICD9: 753.12      ICD10: Q61.3      ICD11: GB81

Polycystic Kidney Disease (PKD) is a genetic disorder that causes numerous cysts to grow in the kidneys.
These cysts are filled with fluid and can eventually damage the kidneys. The cysts can grow very large, crowding the kidneys and reducing their ability to function properly.

Here's a more detailed breakdown:

What it is: A genetic (inherited) disorder characterized by the growth of numerous cysts in the kidneys.
Key Characteristic: The development of cysts (fluid-filled sacs) in the kidneys.
Impact on the Kidneys: Cysts enlarge over time, damaging the kidneys and impairing their ability to filter waste from the blood. This can lead to kidney failure.
Genetic: Caused by inherited gene mutations. There are two main types:
Autosomal Dominant Polycystic Kidney Disease (ADPKD): This is the most common form. Only one parent needs to have the gene for the child to inherit the disease. Symptoms usually develop between the ages of 30 and 40, but can start earlier.
Autosomal Recessive Polycystic Kidney Disease (ARPKD): This is a rarer and more severe form. Both parents must carry the gene for the child to inherit the disease. Symptoms often start in infancy or even before birth.

Symptoms:

Symptoms can vary, but common ones include:

Pain in the back or side: Caused by the enlarging cysts.
High blood pressure (hypertension): A common complication as the kidneys fail to regulate blood pressure.
Blood in the urine (hematuria): From bleeding cysts.
Frequent urinary tract infections (UTIs).
Kidney stones.
Enlarged abdomen: Due to enlarged kidneys.
Headaches.
Feeling of fullness in the abdomen.
Kidney failure (end-stage renal disease).

Other possible complications:

Cysts in other organs, such as the liver.
Heart valve problems.
Brain aneurysms (bulges in blood vessels in the brain).

Diagnosis:

Family History: Important, as it is a genetic condition.
Imaging Tests: Ultrasound, CT scan, or MRI of the kidneys. These tests can show the size and number of cysts.
Genetic Testing: Can confirm the diagnosis, particularly in cases where the diagnosis is unclear or for family planning.

Treatment:

There's no cure for PKD, so treatment focuses on managing symptoms and slowing the progression of the disease:

Blood Pressure Control: Very important to protect the kidneys.
Pain Management: Medications for pain relief.
Antibiotics: To treat UTIs.
Dietary Changes: Low-sodium diet.
Tolvaptan (Jynarque): A medication specifically approved for ADPKD to slow cyst growth and kidney decline in certain adults. It is not a cure, and it has potential side effects and risks.
Dialysis: When kidney failure occurs, dialysis filters the blood.
Kidney Transplant: A kidney transplant is the ultimate treatment for kidney failure.

Prognosis:

The prognosis for PKD varies depending on the type of PKD, the severity of the disease, and how well symptoms are managed. Early diagnosis and treatment can help slow the progression of the disease and improve the quality of life. Kidney failure is a serious complication, but dialysis and kidney transplantation can extend life expectancy.

Important Points to Remember:

PKD is a genetic disorder.
It causes cysts to grow in the kidneys, which can damage them.
There is no cure, but treatments can help manage symptoms and slow the progression of the disease.
Early diagnosis and treatment are important.
If you have a family history of PKD, talk to your doctor about screening.

Disclaimer: This information is for general knowledge and informational purposes only, and does not constitute medical advice. It is essential to consult with a qualified healthcare professional for any health concerns or before making any decisions related to your health or treatment.*